Objective: We present a case of Wilson’s Disease (WD) triggered by a COVID-19 infection, characterized by subacute fluctuated generalized dystonia, chorea/ballism, spasmodic dysphonia and excessive drooling that developed within one year.

Background: Wilson’s Disease (WD) is a genetic disorder caused by mutations in the ATP7B gene, leading to excessive copper accumulation in the liver and brain. The accumulation in the central nervous system may result in neuropsychiatric symptoms, including dystonia, choreoathetosis, tremor, dysarthria, and cognitive impairment [1].

Method: A detailed clinical history and physical examination were performed. Direct PCR sequencing for ATP7B was conducted for genetic analysis.

Results: A 24-year-old male, without prior systemic disease, contracted COVID-19 in June 2022. Within few days, he presented with excessive drooling, mild slurred speech, asymmetric facial expressions, and mild fluctuating right limb incoordination and clumsiness which exaggerated after exercise. In early 2023, he experienced 2 episodes of transient worsening neurological symptoms including: right limbs hemi-dystonia, chorea/ballism, spasmodic dysphonia and swallowing difficulties reported after physical exhaustion and respiratory infections. It was not until April 2023 when his left limbs were also involved that he sought for medical attention. Other neurological examination revealed mild memory and calculation impairment, orofacial dystonia, ataxia and presence of Kayser–Fleischer rings [figure1]. Laboratory results showed decreased ceruloplasmin (3.0 mg/dL), decreased serum copper (38 µg/dL), and elevated free copper (29 µg/dL) and urine copper (235 µg). Surface EMG of both upper limbs showed prolonged MUAP bursts with co-contraction of agonists and antagonists muscles [figure2]. Brain MRI revealed T2 FLAIR hyperintensities in the putamen, caudate nucleus, posterior limb of the internal capsule, midbrain, and pons [figure3]. PCR direct sequencing for ATP7B mutation analysis identified two compound heterozygous mutations (c.2333G>T/p.R778L, c.2975C>T/p.P992L) [figure4]. Treatment with zinc acetate and Trientine stabilized his symptoms.

Conclusion: In patients with Wilson’s Disease, COVID-19 may exacerbate neuropsychiatric symptoms or lead to a worsening of their neurological condition. Timely diagnosis and treatment with copper-chelating agents can effectively manage the condition and prevent irreversible damage.

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References: [1] Shribman, S., Poujois, A., Bandmann, O., Czlonkowska, A., & Warner, T. T. (2021). Wilson’s disease: update on pathogenesis, biomarkers and treatments. Journal of neurology, neurosurgery, and psychiatry, 92(10), 1053–1061.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/unmasking-wilson-disease-subacute-neurological-complications-during-the-covid-19-pandemic/